Журнал клинических случаев

Background: Carnitine Palmitoyltransferase IA (CPT IA; MIM #255120) deficiency is a rare autosomal recessive inherited disorder of mitochondrial fatty acid oxidation. Patients experience a rapid onset of symptoms which include “Reye-like” hepatic encephalopathy precipitated by fasting or any intercurrent illness, followed by hepatomegaly and hypoketotic hypoglycaemia.

Objective: To perform clinical, biochemical and genetic characterization of a patient with CPT1A deficiency.

Designs and methods: We present a case of a patient with unresolved cholestatic jaundice, failure to thrive and gross developmental delay. Physical examination showed moderate hepatomegaly with mild hypotonia.

Results: Basic laboratory investigations showed moderate transaminitis with cholestasis and compensated metabolic acidosis. Dried blood spot acylcarnitine showed marked elevation of free carnitines (C0) and C0/C16+C18 ratio with suppressed levels of C16, C16OH, C18:1 and C18 Organic acid analysis showed a dicarboxylic aciduria with a prominence of the C12 dicarboxylic (dodecanedioic) acid and increased excretion of 3-methylglutaconic acid. CPT1A mutation analysis identified two novel mutations, c.1244C>A p. (Ala415Glu) in exon 11 and c.1450del p. (Leu484Phefs*47) in exon 12.

Conclusion: Unsuspected CPT1A deficiency was diagnosed in a jaundiced patient from the selective screening for inborn errors and metabolism and confirmed by molecular analysis.

Background: Talaromyces Marneffei (TM) infection is commonly seen in HIV-positive or immunocompromised patients but rarely reported in HIV-negative individuals. Hemophagocytic syndrome is one of a group of syndromes characterized by overactivity of immune cells resulting in the production of excessive inflammatory factors and causing damage to multiple organs.

Case presentation: This case report presents a previously healthy 52-year-old male patient who experienced persistent fever and chills for over 20 days. Initial blood tests revealed decreased hemoglobin and platelets, and increased proportion of neutrophils. Laboratory examinations showed elevated levels of procalcitonin, C-reactive protein, erythrocyte sedimentation rate, ferritin, along with abnormalities in liver function. Imaging studies indicated hepatosplenomegaly. Tests for common infectious diseases, autoimmune liver diseases, and blood cultures all yielded negative. A bone marrow aspiration smear revealed a suspected TM fungus, which was later confirmed through culture and sequencing. However, the patient's condition rapidly deteriorated, with the presence of histiocytes and hemophagocytes, along with severe liver damage and coagulation disorders, progressing to hemophagocytic syndrome with a poor prognosis.

Conclusion: The nonspecific symptoms of TM infection in HIV-negative patients can lead to misdiagnosis and delayed treatment. Therefore, it is crucial for clinicians to promptly recognize TM infection in HIV-negative individuals and initiate early antifungal treatment to prevent the progression of diseases with poor prognosis.

Coma Recovery Scale for Pediatrics (CRS-P) is a modified version of Coma Recovery Scale-Revised (CRS-R). This tool allows to analyse subjects’ behavioural responses and it also enables to diagnose Coma, Vegetative State, MCS and E-MCS in paediatrics. It is an ordinal scale, which counts 29 items divided in 6 subscales. CRS-R is a gold standard for the assessment of adults with DOC, and it’s also recommended for children, following the American guidelines. We undertook the translation and cultural adaptation of the CRS-P to have an adapted Italian version of this scale, to be tested on Italian children. To pursue the purpose of the project CRS-P was converted into Italian by two independent translators and was also culturally adapted. We found conceptual, semantic and content correspondence between the original version and the preliminary version of the instrument in Italian. The CRS-P version in the target language can be tested on Italian children, and then validated.

A five years old known case of Autism Spectrum Disorder (ASD) is being treated with integrative approach with the combination of Ayurvedic medicines and panchakarma procedures. Patient was taking occupational and speech therapy more than one year with very little improvement in symptoms. Ayurvedic panchakarma procedures such as Nasya therapy (administration of medicines through nose), Rajyapana Basti (medicated enema) along with some Ayurvedic medicines orally. ISAA score and symptoms of patient were assessed every 15 days for 3 months. Patient had shown substantial improvement in social communication, language, eye contact, hyper activeness.

Ranula are mucous cysts of salivary gland origin. The traditional treatment is surgery to resect the ranula but it has disadvantages such as postoperative pain, perioperative risks, and surgical side effects. Our team firstly reported the case of a 21-year-old man with an extraoral ranula who was successfully treated with foamed lauromacrogol sclerotherapy. The extraoral ranula disappeared during the one-year follow-up, and no adverse events were noted. This therapy can potentially become a primary treatment for extraoral ranula.

Galactorrhea secondary to hyperprolactinemia is usually associated with a pathological or drug induced cause. We describe a 39 year old female patient who presented with a history of galactorrhea and no other specific symptoms. She had been on oral contraception for 15 years after the birth of her first child and had developed the milky nipple discharge three years prior to presentation. She had initially been managed as hyperprolactinemia secondary to long term contraceptive use but was referred for further investigation as she had no resolution to the galactorrhea after cessation of the drug for a significant period. Her blood investigations revealed an isolated persistently elevated serum prolactin and the diagnosis of an empty sella was made on radiological imaging.

Introduction: Acute abdomen is common surgical problem that usually needs surgical intervention. Wide range of etiologies that lead to acute abdomen. Bowel injury or perforation is one of these leading causes, that usually because of trauma (blunt, penetrating and iatrogenic) or perforation of diseased bowel.

Case presentation: A 27 years old male patient with no previous medical or surgical history, presented to emergency complaining of severe abdominal pain for one day. Examination revealed severe tenderness and rigidity all over the abdomen. CT abdomen revealed large amount of free fluid in abdomen. Diagnostic laparoscopy done showed large amount of hemo peritoneum with big hematoma over sigmoid colon associated with multiple serosal lacerations of sigmoid colon. Suction of blood done with drain insertion in the pelvis. Post-operative period was smooth patient discharged home 2 days after surgery without complain.

Discussion: Colonic injury that causes acute abdomen is usually complete injury that leads to fecal peritonitis. Here we presented a novel scenario of spontaneous serosal lacerations in healthy colon that led to massive hemo peritoneum and acute abdomen. potential etiologies are persistent constipation, low fiber dietary habits that cause increase of intra colonic pressure and presence of connective tissue disorders.

Conclusion: Spontaneous colonic serosal lacerations should be added to the differential diagnosis of acute abdomen. Laparoscopic exploration is of great value in acute abdomen.

A 55 year old female patient, born in the Middle east and living in North America since the age of 12, has been suffering from multiple complex medical disorders. These include history of seronegative Juvenile Rheumatoid Arthritis (JRA), Raynaud Phenomenon, Ulcerative Colitis (UC), severe Endometriosis with multiple excisions and ablation of endometriotic lesions and total abdominal hysterectomy with a Bilateral Salpingo- Oophorectomy (TVH/BSO), Gastroesophageal Reflux Disease (GERD), episodes of Interstitial Cystitis (IC), history of dysequilibrium and vertigo diagnosed as Vestibular Migraine and Persistent Postural-Perceptual Dizziness (PPPD), Hashimoto thyroiditis, fibromyalgia, migratory polyarthropathy, and kidney disease. The patient was treated with a trial of Janus Kinase 2 (JAK2) inhibitor. She responded well to the treatment and has seen significant improvement in her complex GastroIntestinal (GI), neurological, rheumatological, urogenital, kidney and thyroid clinical manifestations. This is a strong indication that many, if not all, of the patient’s medical manifestations had an underlying immunological origin.

Cushing’s syndrome is a rare but potentially life-threatening disease. We present a case of severe Cushing’s syndrome of unknown origin, who suffered and survived most of the known acute complications associated with hypercortisolaemia. We emphasize the importance of etomidate use in such emergency situations and the value and role of bilateral adrenalectomy, when rapid restoration of the euadrenal state is paramount, especially when ectopic ACTH is suspected and the source is unclear or impossible to resect. The importance of multidisciplinary endocrine care and the necessary laboratory facilities when dealing with highly complex cases is highlighted.